At the Rare Genomics Institute, we understand that enacting change cannot happen unilaterally and that solving medical mysteries does not come without teamwork. We stand proudly at the forefront of the utilization of genomic sequencing for the purpose of identifying, treating and hopefully curing rare diseases. At the same time, we realize there are many other people outside of our organization who are just as fundamental to the fight against rare diseases as we are. The team at RG is inspired by those who dedicate their lives to helping others affected by rare disease. Here is one of their stories:
Research is the backbone of scientific discovery. Researchers do not often hone their craft in the spotlight: theirs is a task best suited at the lab bench, away from the public eye. It was, therefore, striking to come across a geneticist who works with the public on a daily basis as a pediatrician in my proverbial backyard at Columbia University. In December of 2016, I sat down with Dr. Wendy Chung to discuss her unique practice.
Dr. Chung holds both a PhD in genetics from Rockefeller University and an MD from Cornell University. The confluence of those pieces of education is not coincidental; “The year that I started my MD/PhD program was the year the Human Genome Project officially started. It became very clear to me that there was going to be a very unique opportunity in terms of being able to harness [that] power.”
Her interest in genetics in tow, Dr. Chung tailored her research and subsequent medical practice toward those who need genetic research most: children with rare diseases.
“A lot of individuals with rare disorders don't live to grow up,” Dr. Chung continued, “[However], it’s just been miraculous to me to be able to see how much things have evolved and changed in a very positive way: What I see now is that getting a diagnosis is much easier than it used to be. Now our energy needs to be focused on developing treatments. What drives me now is to figure out how we can get beyond the diagnosis and get to [those] treatments.”
Setting a Course:
The route that Dr. Chung’s lab takes toward diagnosis and treatment is somewhat irregular. Gene editing has been mentioned on the Rare Genomics Institute’s website before.
However, Dr. Chung edits the genes of model organisms (mostly mice) in order to test the reactions of those organisms to treatments before utilizing suggested treatments on humans. Dr. Chung’s practice is unique in that she and her team participate on both the research and practical implementation sides of the fence. She is actively both testing treatments and treating patients.
Dr. Chung stated, “We do everything we can in terms of clinical care and then we continue to march onward. If we don't find anything we can do clinically we cross over the fence into research mode and do everything we can on the research side. We can return information from the research study to [patients] and hopefully get them to a diagnosis faster and more effectively.”
Dr. Chung continued, “Because Columbia is a research institute, when we identify new conditions, we do our very best to help families connect to each other and to share information amongst clinicians. [We then] make that information freely available and accessible so that we can all learn together and try to understand mechanisms for why these conditions exist.” Dr. Chung detailed some of the limitations of more orthodox research methods, “If you're talking about cells in vitro, it’s a fine model for very basic molecules in terms of how they interact in a cell. But even if you make an organoid in terms of neurons in a dish, you can’t get that to function like a brain does. Maybe if you're lucky you'll get something that looks like a seizure from an electrical point of view, but often times you can’t get anything that approaches the right behavioral difference.”
Researchers at Columbia come to similar crossroads in Dr. Chung’s lab. “When it comes to mice or any other model organism,” stated Dr. Chung, “the mice may look basically fine, but the people, who have this same condition, they are clearly not fine.”
The two halves of Dr. Chung’s practice are united due to this complication. Though rodents inflicted with the same rare conditions as human patients may appear to function normally, Dr. Chung notes that mice do not read or write; they are not responsible for higher-order thinking challenges like those of a human. Therefore, sometimes, modeling is insufficient in both diagnosis and in research for treatment techniques for patients.
The goal of Dr. Chung’s practice is, of course, not simply diagnosis but treatment. There are limitations to this goal, however. Research timelines often stymie a patient’s journey from diagnosis to treatment. Dr. Chung elaborates, “Treatment isn't something that comes a week after you get the diagnosis. It often takes several years to do that, but we're working with families to take that next step.”
Time is not the only limiting factor in the treatment of a patient living with a rare disease. Costs can be overwhelming for families. Accessibility is extremely important to the rare disease patient community and Dr. Chung’s team certainly recognizes the fact. Dr. Chung notes, “We take all types of insurance, whether it’s Medicaid or private insurance. We try to have enough capacity to try to deal with all of the different types of patients that would come in, whether they're kids or adults.”
“On the other hand,” Dr. Chung continued, “we also try to be realistic. If there are some individuals where, if we don’t think that there's a high enough probability that we're going to find something or help them even if we don't find an answer, we don't have them come halfway around the country.”
Dr. Chung’s patient population is wide-ranging in the geographic sense, and admission therein requires that only 3-5 patients are seen each week. Typical patients of the DISCOVER (Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research) Program “tend to be many of the same types of folks that you guys are working with at the Rare Genomics Institute” states Dr. Chung, “[these] kids may have neuro-developmental disorders or congenital anomalies or very rare or very early onset presentations of conditions that increase the probability that [their conditions may be] something hereditary.”
Many of Dr. Chung’s patients are designated “N-of-1” or the very first patients to experience certain conditions. Dr. Chung clarified, “Although it’s not always the case, it’s not unusual for us to be an N-of-1 situation for a while. [These situations] don’t stay N-of-1 for very long, but they often start out that way.”
The uniqueness of her patient’s conditions often leads to frustrations in treatment. Dr. Chung notes that in terms of ultra-rare diseases, the challenges of both time and money weigh heavily on the patient population, “ultra-rare diseases are individually so rare that it is hard to be able to get the resources and the talented scientists to be able to dedicate all their energies for conditions that affect one in two million people, for example.”
Emphatically reinforcing why her organization is important in the many fights against rare conditions, Dr. Chung stated, “Unless every rare disease is blessed with a family who has gazillions of dollars they don't know what to do with, you can get stuck.”
But Dr. Chung’s team needn’t help families get un-stuck alone, “This is very much a partnership. Families really have to take up the cause and push things forward, especially when it comes to the ultra-rare disorders. If they don't, it's not like a lot of people are going to run to their assistance.”
Moving forward from diagnosis is a communal effort: it is up to all of us. Whether you’ve been inspired by the work of artists or you know someone living with a rare disease yourself, the work of doctors and researchers to help patients living with rare conditions cannot be completed without your help. Please consider suppporting ongoing rare disease research efforts. Let's march onward together.